Varaico: Literature-Extracted Genetic Variants

Gene:MEGF10
Variant:p.C326R
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MEGF10

NM_001256545.2:p.C326R

Associated Papers

Expanded spectrum of MEGF10 related myopathies: late-onset myofibrillar myopathy-like phenotype with novel variants.

Zhu B et al.

Neuromuscular Disorders : Nmd, 2026

The role of MEGF10 in myoblast fusion and hypertrophic response to overload of skeletal muscle.

Richardson L et al.

Journal of Muscle Research and Cell Motility, 2025

Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population.

AlMuhaizea M et al.

Genes, 2021

Selective serotonin reuptake inhibitors ameliorate MEGF10 myopathy.

Saha M et al.

Human Molecular Genetics, 2019

Consequences of MEGF10 deficiency on myoblast function and Notch1 interactions.

Saha M et al.

Human Molecular Genetics, 2017

Japanese multiple epidermal growth factor 10 (MEGF10) myopathy with novel mutations: A phenotype-genotype correlation.

Takayama K et al.

Neuromuscular Disorders : Nmd, 2016

Megf10 Is a Receptor for C1Q That Mediates Clearance of Apoptotic Cells by Astrocytes.

Iram T et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2016

Myogenin is a positive regulator of MEGF10 expression in skeletal muscle.

Park SY et al.

Biochemical and Biophysical Research Communications, 2014

Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy.

Mitsuhashi S et al.

Febs Letters, 2013

Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.

Boyden SE et al.

Neurogenetics, 2012

Identification of a de-novo variant of the MEGF10 gene associated with EMARDD.

Darfallah L et al.

Revista Espanola De Patologia : Publicacion Oficial De La Sociedad Espanola De Anatomia Patologica Y De La Sociedad Espanola De Citologia, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."